Proteus Syndrome

2019 ◽  
pp. 199-216 ◽  
Author(s):  
Leslie G. Biesecker
Keyword(s):  
Somatic Mosaicism ◽  
Body Part ◽  
The Body ◽  
National Institutes Of Health ◽  
Proteus Syndrome ◽  
Neoplastic Disease ◽  
Increased Risk ◽  
Activating Mutation ◽  
Segmental Overgrowth ◽  
Overgrowth Syndromes

Proteus syndrome is an exceedingly rare disorder, perhaps the least common of all overgrowth syndromes but one of the most distinctive because of its segmental nature and unrelenting progression. Proteus syndrome occurs sporadically and was the first of the segmental overgrowth syndromes found to be caused by somatic mosaicism. The discovery of an activating mutation in AKT1 by Les Biesecker and colleagues at the National Institutes of Health provided the initial molecular proof for somatic mosaicism in Proteus syndrome. Overgrowth in Proteus syndrome can involve nearly any tissue or part of the body. Presumably a germline mutation that would affect all tissues of the body would be lethal. Overgrowth of a tissue or a body part is the distinctive manifestation of Proteus syndrome but in most cases will be accompanied by other cutaneous, skeletal, vascular, or soft tissue findings. Although the possibility of an increased risk for developing neoplastic disease is a concern in any overgrowth disorder, this has not been demonstrated in Proteus syndrome.

scholarly journals Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth

2020 ◽  
Vol 8 ◽  
Author(s):  
Jessica R. Griff ◽  
Kelly A. Duffy ◽  
Jennifer M. Kalish
Keyword(s):  
Tumor Development ◽  
Current Data ◽  
The Body ◽  
Proteus Syndrome ◽  
Related Disorder ◽  
Screening Guidelines ◽  
Tumor Risk ◽  
Increased Risk ◽  
Segmental Overgrowth ◽  
Cell Growth And Proliferation

Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some overgrowth syndromes, characterized by both generalized and lateralized overgrowth, have been associated with an increased risk of tumor development. This may be due to the underlying genetic and epigenetic defects that lead to disrupted cell growth and proliferation pathways resulting in the overgrowth and tumor phenotypes. This chapter focuses on the four most common syndromes characterized by LO: Beckwith-Wiedemann spectrum (BWSp), PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome (PS), and PTEN hamartoma tumor syndrome (PHTS). These syndromes demonstrate variable risks for tumor development in patients affected by LO, and we provide a comprehensive literature review of all common tumors reported in patients diagnosed with an LO-related disorder. This review summarizes the current data on tumor risk among these disorders and their associated tumor screening guidelines. Furthermore, this chapter highlights the importance of an accurate diagnosis when a patient presents with LO as similar phenotypes are associated with different tumor risks, thereby altering preventative screening protocols.

Reductive Otoplasty and Facial Debulking in a Pediatric Patient With PIK3CA-Related Overgrowth

FACE ◽  
2021 ◽  
pp. 273250162110482
Author(s):  
Rishub K. Das ◽  
Barry G. Rahman ◽  
James D. Phillips ◽  
Alexandra J. Borst ◽  
Nolan Jaeger ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Vascular Malformations ◽  
Genetic Diseases ◽  
Facial Soft Tissue ◽  
Novel Approach ◽  
Rare Genetic Diseases ◽  
Increased Risk ◽  
Surgical Debulking ◽  
Segmental Overgrowth ◽  
Overgrowth Syndromes

Overgrowth syndromes encompass a number of rare genetic diseases with heterogeneous clinical phenotypes. Accordingly, there is a strong imperative to collect data and classify these disorders to aid in diagnosis and management. Recent advances in the genetics of overgrowth syndromes have identified mutations in the PIK3CA gene. These somatic mutations manifest in progressive segmental overgrowth of fibrous and adipose tissue and bone, vascular malformations, and in some cases, increased risk for malignancy. Targeted medical therapy is under investigation for the management of PROS, but treatment of overgrowth relies on surgical debulking. Macrotia in PIK3CA-related overgrowth spectrum (PROS) has not been reported in the literature. In this case, we discuss a novel approach to reductive otoplasty and facial soft tissue debulking in a pediatric patient with PROS.

mySmartCheck, a Digital Intervention to Promote Skin Self-examination Among Individuals Diagnosed With or at Risk for Melanoma: A Randomized Clinical Trial

2021 ◽  
Author(s):  
Sharon L Manne ◽  
Michael A Marchetti ◽  
Deborah A Kashy ◽  
Carolyn J Heckman ◽  
Lee M Ritterband ◽  
...  
Keyword(s):  
Positive Impact ◽  
Body Part ◽  
The Body ◽  
Clinical Settings ◽  
Body Parts ◽  
Increased Risk ◽  
History Of ◽  
Self Examination ◽  
To Receive

Abstract Background Regular skin self-examination (SSE) reduces melanoma mortality but is not often conducted. Purpose To promote SSE performance in individuals at increased risk for melanoma. Methods One hundred sixteen individuals at heightened risk for development of melanoma (i.e., personal/family history of melanoma, high-risk mole phenotype) who did not conduct a thorough SSE during in the prior 3 months were randomly assigned to receive either an automated internet-based intervention (mySmartCheck) or usual care (UC). One hundred sixteen participants completed surveys before random assignment and 99 completed the follow-up survey 13-weeks afterward. The primary outcome was participant self-reported examination (SSE) of all 15 parts of the body in the last 3 months. Secondary outcomes were SSE of any part of the body in the last 3 months and number of body parts examined during the last SSE. Results More mySmartCheck participants examined all 15 body parts (32.6% vs. 7.1%, p = .001). More individuals in mySmartCheck reported conducting SSE on any body part than those in UC (81.4% vs. 62.5%, p = .04). Effect sizes were large (d = 1.19 all 15 body parts) to moderate (d = 0.55 for any body part). mySmartCheck participants examined more body areas than UC participants (12.7 vs. 10.3, p = 0.003) during the last SSE. Participants in mySmartCheck reported higher levels of knowledge of suspicious lesions, SSE benefits, SSE self-efficacy, and planning for SSE, and lower SSE barriers, than those assigned to UC. Conclusions mySmartCheck had a significant positive impact on SSE performance and behaviors. Additional research with a larger sample size, a longer follow-up, and more varied clinical settings is needed. Trial Registration ClinicalTrials.gov registration # NCT03725449 (https://clinicaltrials.gov/ct2/show/NCT03725449).

Orthopaedic perspectives on CLOVES and Proteus syndrome - how to treat deformities related to overgrowth syndromes?

2020 ◽  
Author(s):  
A Laufer ◽  
A Frommer ◽  
G Gosheger ◽  
R Rödl ◽  
AM Rachbauer ◽  
...  
Keyword(s):  
Proteus Syndrome ◽  
Overgrowth Syndromes

scholarly journals The Association of Obesity and Liver Enzyme Activities in a Student Population at Increased Risk for Cardiovascular Disease / Veza Između Gojaznosti I Aktivnosti Jetrenih Enzima U Studentskoj Populaciji Sa Povećanim Rizikom Za Nastanak Kardiovaskularnih Bolesti

2013 ◽  
Vol 32 (1) ◽  
pp. 26-31 ◽  
Author(s):  
Emina Čolak ◽  
Dragana Pap ◽  
Nada Majkić-Singh ◽  
Ivana Obradović
Keyword(s):  
Body Mass Index ◽  
Waist Circumference ◽  
Liver Enzyme ◽  
Body Mass ◽  
Statistical Processing ◽  
The Body ◽  
Control Group ◽  
Anthropometric Parameters ◽  
Nonalcoholic Fatty Liver ◽  
Increased Risk

Summary Background: It has been reported that obesity is associated with metabolic syndrome, insulin resistance, cardiovascular risk but also with nonalcoholic fatty liver disease (NAFLD). The prevalence of obesity in children and adolescents is increasing rapidly all over the world. The aim of this study was to analyze the value of liver enzymes: AST, ALT and γGT in a group of obese students in order to establish their correlation to anthropometric parameters such as: BMI (body mass index), WC (waist circumference), HC (hip circumference), and WHR (waist-to-hip ratio) compared to non-obese students who comprised the control group (CG). Methods: In this study, 238 students from the University of Novi Sad of both sexes (126 men and 112 women) with a mean age of 22.32 ± 1.85 years were included. According to the body mass index (BMI) lower and higher than 25 kg/m2 and waist circumference (WC) lower and higher than 94 cm (80 cm for females) the whole group of 238 students was divided into 2 subgroups: the obese group at increased risk for CVD (Group 1) and the group at lower risk for CVD (Group 2). AST, ALT and γGT activities were determined in fasting blood samples. Results: Statistical processing data revealed significantly higher values of AST, ALT and γGT in the group of students with BMI>25 kg/m2, WC>94 cm for males and WC>80 cm for females, HC>108 cm for males and HC>111 cm for females, and WHR>0.90 for males and WHR>0.80 for females (P<0.001). Significant association was established between anthropometric parameters and liver enzyme levels (P<0.0001). Conclusions: Obese students with higher BMI, WC, HC and WHR values have higher liver enzyme activites and a higher chance to develop NAFLD in the future.

scholarly journals Life Course Predictors of Allostatic Load Among LGBTQ Older Adults

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 735-735
Author(s):  
Charles Hoy-Ellis ◽  
Hyun Kim ◽  
Karen Fredriksen Goldsen
Keyword(s):  
Older Adults ◽  
Life Course ◽  
Interpersonal Violence ◽  
Allostatic Load ◽  
Identity Management ◽  
The Body ◽  
Linear Regression Models ◽  
Psychophysiological Stress ◽  
Increased Risk ◽  
Wear And Tear

Abstract LGBTQ older adults are at significantly increased risk for poor mental and physical health, likely consequential to lifelong bias. Allostatic load (AL), the net effect of “wear and tear” on the body resulting from repeated, chronic over-activation of the psychophysiological stress response system. Utilizing the Health Equity Promotion Model, the aim of this study was to test potential life course predictors of AL, including interpersonal violence, legal marriage, and identity management in a sample of LGBTQ adults 50 to 97 years of age (n=317). Results from a series of hierarchical linear regression models showed that adult physical abuse and late identity disclosure for those who had been in an opposite-sex marriage predicted higher AL in this sample of LGBTQ older adults, indicating need for increased research on bias over the life course as contributory to AL and biopsychosocial dysfunction among LGBTQ older adults.

scholarly journals Timing of Bisphosphonate Initiation After Fracture: What Does the Data Really Say?

2020 ◽  
Vol 11 ◽  
pp. 215145932098036
Author(s):  
David W. Barton ◽  
C. Taylor Smith ◽  
Amit S. Piple ◽  
Sterling A. Moskal ◽  
Jonathan J. Carmouche
Keyword(s):  
Fracture Healing ◽  
Clinical Studies ◽  
Osteoporosis Treatment ◽  
The Body ◽  
Non Union ◽  
Increased Risk ◽  
Level I ◽  
Timing Of Initiation ◽  
The Impact ◽  
Published Research

Introduction: Osteoporosis is often not clinically recognized until after a fracture occurs. Individuals who have 1 fracture are at increased risk of future fractures. Prompt initiation of osteoporosis treatment following fracture is critical to reducing the rate of future fractures. Antiresorptives are the most widely used class of medications for the prevention and treatment of osteoporosis. Many providers are hesitant to initiate antiresorptives in the acute post-fracture period. Concerns include interference with bone remodeling necessary for successful fracture healing, which would cause increased rates of non-union, malunion, and refracture. While such concerns should not extend to anabolic medications, physicians may also hesitate to initiate anabolic osteoporosis therapies due to high cost and/or lack of familiarity. This article aims to briefly review the available data and present a digestible narrative summary to familiarize practicing orthopaedic surgeons with the essential details of the published research on this topic. Results: The results of 20 clinical studies and key pre-clinical studies related to the effect of anti-resorptive medications for osteoporosis on fracture healing are summarized in the body of this narrative review. Discussion & Conclusions: While few level I studies have examined the impact of timing of initiation of osteoporosis medications in the acute post-fracture period, the few that have been published do not support these concerns. Specifically, data from level I clinical trials indicate that initiating bisphosphonates as early as 2 weeks post-fracture does not increase rates of non-union or malunion. By reviewing the available data, we hope to give clinicians the confidence to initiate osteoporosis treatment promptly post-fracture.

scholarly journals Experiential ownership and body ownership are different phenomena

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Caleb Liang ◽  
Wen-Hsiang Lin ◽  
Tai-Yuan Chang ◽  
Chi-Hong Chen ◽  
Chen-Wei Wu ◽  
...  
Keyword(s):  
Conscious Experience ◽  
Distinct Type ◽  
Body Part ◽  
The Body ◽  
Body Ownership ◽  
Rubber Hand ◽  
Person Perspective ◽  
The One ◽  
First Time ◽  
Full Body

AbstractBody ownership concerns what it is like to feel a body part or a full body as mine, and has become a prominent area of study. We propose that there is a closely related type of bodily self-consciousness largely neglected by researchers—experiential ownership. It refers to the sense that I am the one who is having a conscious experience. Are body ownership and experiential ownership actually the same phenomenon or are they genuinely different? In our experiments, the participant watched a rubber hand or someone else’s body from the first-person perspective and was touched either synchronously or asynchronously. The main findings: (1) The sense of body ownership was hindered in the asynchronous conditions of both the body-part and the full-body experiments. However, a strong sense of experiential ownership was observed in those conditions. (2) We found the opposite when the participants’ responses were measured after tactile stimulations had ceased for 5 s. In the synchronous conditions of another set of body-part and full-body experiments, only experiential ownership was blocked but not body ownership. These results demonstrate for the first time the double dissociation between body ownership and experiential ownership. Experiential ownership is indeed a distinct type of bodily self-consciousness.

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